ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 7 results

ey0020.11-13 | Endocrinology | ESPEYB20

11.13. Measuring contraceptive method mix, prevalence, and demand satisfied by age and marital status in 204 countries and territories, 1970-2019: a systematic analysis for the Global Burden of Disease Study 2019

A Haakenstad , O Angelino , CMS Irvine , ZA Bhutta , K Bienhoff , C Bintz , K Causey , MA Dirac , N Fullman , E Gakidou , T Glucksman , SI Hay , NJ Henry , I Martopullo , AH Mokdad , JE Mumford , SS Lim , CJL Murray , R Lozano

Brief summary: An analysis of contraception data in 204 countries and territories between 1970 and 2019 shows that 162.9 million women had unmet needs for contraception (65.5% in sub-Saharan Africa and in south Asia). Demand was not satisfied for 64.8% of women aged 15–19 years, the highest proportion of any age group.This study included women aged 15–49 years and analysed contraceptive prevalence rate (CPR) and ‘demand satisfied’. We...
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ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...
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ey0016.1-1 | (1) | ESPEYB16

1.1. Genome-wide association analyses of chronotype in 697, 828 individuals provides insights into circadian rhythms

SE Jones , JM Lane , AR Wood , VT van Hees , J Tyrrell , RN Beaumont , AR Jeffries , HS Dashti , M Hillsdon , KS Ruth , MA Tuke , H Yaghootkar , SA Sharp , Y Jie , WD Thompson , JW Harrison , A Dawes , EM Byrne , H Tiemeier , KV Allebrandt , J Bowden , DW Ray , RM Freathy , A Murray , DR Mazzotti , PR Gehrman , DA Lawlor , TM Frayling , MK Rutter , DA Hinds , R Saxena , MN Weedon

To read the full abstract: Nat Commun 2019;10:343This paper reports many loci associated with chronotype (i.e. being a ‘morning person’ or ‘evening person’) in a genome-wide association study (GWAS) of 697, 828 participants from the UK Biobank and 23andMe cohorts. The link between chronotype and sleep timing and quality is well known. It was therefore interestin...
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ey0016.5-5 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

M Pekkinen , PA Terhal , LD Botto , P Henning , RE Makitie , P Roschger , A Jain , M Kol , MA Kjellberg , EP Paschalis , K van Gassen , M Murray , P Bayrak-Toydemir , MK Magnusson , J Jans , M Kausar , JC Carey , P Somerharju , UH Lerner , VM Olkkonen , K Klaushofer , JC Holthuis , O Makitie

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...
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ey0020.7-14 | Long-Term Surveillance for Endocrine Complications in Childhood Cancer Survivors | ESPEYB20

7.14. Hypothalamic-pituitary and other endocrine surveillance among childhood cancer survivors

L van Iersel , RL Mulder , C Denzer , LE Cohen , HA Spoudeas , LR Meacham , E Sugden , AYN Schouten-van Meeteren , EW Hoving , RJ Packer , GT Armstrong , S Mostoufi-Moab , AM Stades , D van Vuurden , GO Janssens , C Thomas-Teinturier , RD Murray , N Di Iorgi , SJCMM Neggers , J Thompson , AA Toogood , H Gleeson , C Follin , E Bardi , L Torno , B Patterson , V Morsellino , G Sommer , SC Clement , D Srivastava , CE Kiserud , A Fernandez , K Scheinemann , S Raman , KCJ Yuen , WH Wallace , LS Constine , R Skinner , MM Hudson , LCM Kremer , W Chemaitilly , HM van Santen

Brief summary: In this extensive and updated review, the International Late Effects of Childhood Cancer Guideline Harmonization Group (IGHG) report expert consensus-based guidelines that harmonize recommendations for surveillance of endocrine disorders in childhood cancer survivors.This interdisciplinary panel of 42 international experts formulated new surveillance recommendations for hypothalamic–pituitary (HP) dysfunction. Existing IGHG surveillan...
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ey0015.14-14 | Reliable evidence on mouse knock-outs | ESPEYB15

14.14 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

TF Meehan , N Conte , DB West , JO Jacobsen , J Mason , J Warren , CK Chen , I Tudose , M Relac , P Matthews , N Karp , L Santos , T Fiegel , N Ring , H Westerberg , S Greenaway , D Sneddon , H Morgan , GF Codner , ME Stewart , J Brown , N Horner , C International Mouse Phenotyping , M Haendel , N Washington , CJ Mungall , CL Reynolds , J Gallegos , V Gailus-Durner , T Sorg , G Pavlovic , LR Bower , M Moore , I Morse , X Gao , GP Tocchini-Valentini , Y Obata , SY Cho , JK Seong , J Seavitt , AL Beaudet , ME Dickinson , Y Herault , W Wurst , MH de Angelis , KCK Lloyd , AM Flenniken , LMJ Nutter , S Newbigging , C McKerlie , MJ Justice , SA Murray , KL Svenson , RE Braun , JK White , A Bradley , P Flicek , S Wells , WC Skarnes , DJ Adams , H Parkinson , AM Mallon , SDM Brown , D Smedley

To read the full abstract: Nat Genet 2017;49:1231-1238This large international initiative is a major collaboration across 25 research institutes that was set up as part of the scientific community’s response to concerns regarding the notoriously poor reproducibility of scientific research. Up to now, many mouse gene knock-outs have been made and reported, but inconsistency between finding...
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ey0016.15-5 | (1) | ESPEYB16

15.5. Maternal body mass index, gestational weight gain, and the risk of overweight and obesity across childhood: An individual participant data meta-analysis

E Voerman , S Santos , B Patro Golab , P Amiano , F Ballester , H Barros , A Bergstrom , MA Charles , L Chatzi , C Chevrier , GP Chrousos , E Corpeleijn , N Costet , S Crozier , G Devereux , M Eggesbo , S Ekstrom , MP Fantini , S Farchi , F Forastiere , V Georgiu , KM Godfrey , D Gori , V Grote , W Hanke , I Hertz-Picciotto , B Heude , D Hryhorczuk , RC Huang , H Inskip , N Iszatt , AM Karvonen , LC Kenny , B Koletzko , LK Kupers , H Lagstrom , I Lehmann , P Magnus , R Majewska , J Makela , Y Manios , FM McAuliffe , SW McDonald , J Mehegan , M Mommers , CS Morgen , TA Mori , G Moschonis , D Murray , CN Chaoimh , EA Nohr , AM Nybo Andersen , E Oken , A Oostvogels , A Pac , E Papadopoulou , J Pekkanen , C Pizzi , K Polanska , D Porta , L Richiardi , SL Rifas-Shiman , L Ronfani , AC Santos , M Standl , C Stoltenberg , E Thiering , C Thijs , M Torrent , SC Tough , T Trnovec , S Turner , L van Rossem , A von Berg , M Vrijheid , TGM Vrijkotte , J West , A Wijga , J Wright , O Zvinchuk , TIA Sorensen , DA Lawlor , R Gaillard , VWV Jaddoe

To read the full abstract: PLoS Med, 2019;16:e1002744These investigators painstakingly collated individual-level data from 37 pregnancy and birth cohort studies from Europe, North America, and Australia, comprising 162,129 mothers and their children, in order to identify the optimal levels gestational weight gain in relation to risk of offspring obes...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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